V55F (p.Val55Phe) variant of VCL (Vinculin)
V55F (p.Val55Phe) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary familial dilated cardiomyopathy; Cardiomyopathy; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V55F (p.Val55Phe) variant details
- p.Val55Phe
- rs755441334
- ClinGen CA5562708
- ClinVar RCV000218318
- ClinVar RCV000622645
- Uncertain significance
- Primary familial dilated cardiomyopathy; Cardiomyopathy; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.61
- AlphaMissense 0.94
- MetaLR 0.31
- MetaSVM -0.32
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Primary familial dilated cardiomyopathy; Cardiomyopathy; Dilated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)